2015-08-03T00:27:33ZEvaluation of combined cytotoxic effects of effects of ochratoxin A and fumonisina B1 in human liver and renal cellshttp://hdl.handle.net/10400.18/3073
Título: Evaluation of combined cytotoxic effects of effects of ochratoxin A and fumonisina B1 in human liver and renal cells
Autor: Tavares, A.M.; Mendonça, I.; Alvito, P.; Loureiro, S.; Louro, Henriqueta; Silva, Maria
Resumo: Mycotoxins are fungal food contaminants with potential to cause severe acute and chronic conditions1. Therefore, food contamination with mycotoxins such as ochratoxin A (OTA) and fumonisin B1 (FB1) causes great concern. Previous studies addressed the co-occurrence of these toxins in foods2, however there is little knowledge on their combined cytotoxic effects. In the present study we aimed to evaluate the cytotoxic effects of mixtures of OTA and FB1 in two human-derived cell lines.2015-04-01T00:00:00ZDisruption of NUBPL due to balanced translocation [t(3;14)(q26.33;q14)] increases severity of a family-specific PGK1 mutationhttp://hdl.handle.net/10400.18/2858
Título: Disruption of NUBPL due to balanced translocation [t(3;14)(q26.33;q14)] increases severity of a family-specific PGK1 mutation
Autor: David, Dezso; Haltrich, Iren; Marques, Barbara; Fernandes, Catarina; Malveiro, Sara; Fekete, György
Resumo: An intriguing group of familiar translocations are those which not always segregate with the “associated” disorder. Here we report the genetic alterations underlying a clinical phenotype characterized by haemolytic anemia and neuro-myopathy, seemingly associated with the familial translocation [t(3;14)(3q26.33;q14)]. Two affected probands and two unaffected relatives have been identified as carriers of this translocation. The 3q26.33 breakpoint was mapped about 40 kb from the TTC14 5’ end, at position 180.28 Mb and the 14q14 breakpoint within IVS 6 of NUBPL. The latter has been implicated in the aetiology of mitochondrial complex I deficiency (OMIM 252010). The most important additional possible candidate gene identified in this region is DNAJC19 causing an autosomal recessive disorder (OMIM 610198) that partially overlaps the reported phenotype. The recognition that a deceased relative most likely suffered from a similar disorder suggested the possibility of an X-linked disorder. Exclusion of additional genomic alterations within the breakpoint regions or elsewhere in the genome, familial X-chromosome segregation analysis and whole exome sequencing identified a novel missense mutation, c.358G>A, p.Glu120Lys, in exon 4 of phosphoglycerate kinase 1 (PGK1). Segregation analysis confirmed the association of this mutation with the disease phenotype. Re-evaluation of clinical data indicates that myopathy is considerably more severe in PGK1 deficient patients carriers of the translocation. The confirmation of this observation is currently underway. In conclusion, we have identified a novel PGK1 mutation whose clinical phenotype is exacerbated by co-inheritance of the disrupted NUBPL and/or by alterations affecting the genes in the breakpoint regions.2013-06-01T00:00:00ZMucolipidosis Type II and Type III: Nine cases from one Indian centrehttp://hdl.handle.net/10400.18/2853
Título: Mucolipidosis Type II and Type III: Nine cases from one Indian centre
Autor: Bhat, M.; Sanjeeva, G.N.; Maganti, M.; Devaiah, S.; Silji, G.; Undamatla, J.; Coutinho, M.F.; Alves, S.2014-11-01T00:00:00Z16p13.11 microduplication: a case reporthttp://hdl.handle.net/10400.18/2824
Título: 16p13.11 microduplication: a case report
Autor: Marques, Bárbara; Ferreira, Cristina; Ventura, Catarina; Pedro, Sonia; Antunes, Diana; Nunes, Luis; Correia, Hildeberto
Resumo: The short arm of chromosome 16 is very rich in segmental duplications,
predisposing this region of the genome to a number of recurrent rearrangements,
namely deletions and duplications. Although it is already known that
there is a strong association between 16p13.11 deletion and neuropsychiatric
disorders, the clinical significance of its reciprocal duplication is not
clearly defined yet. 16p13.11 microduplication that results of non-allelic
homologous recombination is a very rare genetic alteration which can be
associated with variable clinical features including behavioural abnormalities,
developmental delay, congenital heart defects and skeletal anomalies. We report a 7-years-old boy with global developmental delay, speech
absence, microcephaly, dysmorphic facial features and inexpressive facies.
Microarray analysis revealed a 3.3Mb duplication comprising the 16p13.11-
p12.3 region, which was confirmed by fluorescence in situ hybridization
with a BAC clone for 16p13.11. Eight annotated genes are present in this
region including NDE1, the candidate gene for neurological and behavioural
phenotype. Although this microduplication has been found in the normal
population, is significantly enriched in patients with autism, schizophrenia
and cognitive impairment. Several case reports until now suggest that this
genomic abnormality has incomplete penetrance and variable expressivity
and can constitute a new syndrome. With this case we intend to contribute
to expand the spectrum of clinical findings associated to this genomic abnormality
and provide further knowledge of the pathogenic involvement of
this duplication.2014-05-01T00:00:00Z